Enteral nutrition support for lysinuric protein intolerance: a case report / 中华临床营养杂志

ABSTRACT

Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by defective plasma membrane transport of cationic amino acids (lysine, arginine, and ornithine). LPI is characterized by recurrent vomiting and diarrhea, coma following intake of protein-rich foods, and aversion to high-protein foods, further leading to malnutrition and even death. Some children with LPI also develop alveolar proteinosis. Nutrition support is an important part of treatment. Here we report a case of a 4-year-old girl with LPI, alveolar proteinosis, systemic lupus erythematosus, and cellular immune dysfunction, where nutrition support successfully improved her nutritional status. The relevant literatures are reviewed to provide guidance on the nutritional diagnosis and treatment of LPI.